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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2830196736
Gene: TTN
HGNC
NCBI
Linked Data
ClinVar Variation Id:
229469
ClinVar RCV Id:
RCV000220640
RCV000463890
RCV002485401
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_596869.4:p.Ile16456Val
CA10576512
NM_133378.4:c.49366A>G